Rare diseases · Sign or symptom
Male infertility
HP:0003251
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this23
Very common80–99%
13- 46,XY partial gonadal dysgenesis
- Aromatase deficiency
- Chromosome Y microdeletion syndrome
- Classic galactosemia
- Complete androgen insensitivity syndrome
- Congenital bilateral absence of vas deferens
- Deafness-infertility syndrome
- Familial peripheral male-limited precocious puberty
- Isochromosomy Yp syndrome
- Isochromosomy Yq syndrome
- Male infertility due to acephalic spermatozoa
- Partial androgen insensitivity syndrome
- Ring chromosome Y syndrome
Common30–79%
6Sometimes5–29%
3The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.